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February 2018; 4 (1) ArticleOpen Access

AP4 deficiency

A novel form of neurodegeneration with brain iron accumulation?

Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers
First published January 24, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000217
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  • Figure 1
    Figure 1 Identification of a novel AP4M1 mutation

    (A) Pedigree showing the segregation of the AP4M1 c.916C>T (p.R306X) mutation in the family; black symbols indicate affected patients. (B) Electrophoregrams showing the wild-type (top), the homozygous mutated (middle), and heterozygous (bottom) sequence of AP4M1. (C) Localization of AP4M1 mutations in the protein: the structure of the AP4M1 protein (domain and amino acid positions) is described with all the pathogenic missense mutations5,14 (green), nonsense mutation9,15 (violet), frameshift4,13 (pink flag) mutations reported to date (in black), and in the present cases (in red). HM = homozygous; HT = heterozygous; WT = wild type.

  • Figure 2
    Figure 2 Facial appearance and brain imaging

    (A) Patient IV-2, 25 years. (B) Patient IV-5, 16 years. (C) Patient IV-7, 23 years. (D) Control, 20 years. (A.a, B.a, and C.a) Photographs showing dysmorphism, with bulbous nose, broad nasal bridge, coarse features, and wide-open mouth. (A.b, B.b, and C.b) Axial T2-weighted sequence showing asymmetric ventriculomegaly (black stars) and mild hypointense aspect of the globus pallidus (arrows). Diffuse brain atrophy and loss of white matter without signal abnormality, particularly in occipito parietal areas, are also observed. (A.c, B.c, C.c, and D) Axial susceptibility weighted imaging sequence showing bilateral intense hyposignal of the globus pallidus, significantly predominant in their medial part (arrows, A.c, B.c, and C.c) compared with the control (D).

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